Craniofacial characterization of Marfan Syndrome

Structured Abstract Objective The morbidity and mortality associated with the Marfan Syndrome ( MFS ) warrant timely diagnosis and intervention that can improve long‐term prognosis. The aim of this study was to test the hypothesis that a distinct craniofacial morphology exists for patients with MFS that can be described quantitatively and qualitatively. Methods Subjects with a positive diagnosis of MFS were recruited for this study (N = 36). Craniofacial anthropometric measurements were made on each subject and compared to established norms of age‐ and sex‐matched controls using z ‐scores calculated for measurements of MFS patients. Lateral and frontal photographs were obtained to make qualitative assessments and describe facial features of subjects, and a clinical examination was completed to document occlusal relationships. Results The subjects were primarily female (58%) ranging in age between 4 and 57 years (mean age 10.7 ± 6.0 years). Comparison of craniofacial measurements revealed that for 10 of the 12 measurements, ≥65% of the study population had a z ‐score of ± 2 and fell within the normal range for facial dimension. For 2 of the 12 measurements, over half of the subjects fell outside of the normal range ( z ‐score < −2 or > 2) for facial dimension. Specifically, the majority of participants resided in the supernormal category for biocular width and the subnormal category for width of the face. Photographic assessment revealed retrognathia (54%) and down‐slanting palpebral fissures (62%) were most prevalent in MFS patients. Conclusion Our data suggest there are quantitative differences in the facial morphology of patients with MFS when compared to a control population.